Department of Hematology & Oncology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Department of Hematology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Leuk Lymphoma. 2020 Jul;61(7):1688-1694. doi: 10.1080/10428194.2020.1734595. Epub 2020 Mar 11.
Although several pedigrees of familial myelodysplastic syndromes/acute myeloid leukemia (fMDS/AML) have been reported, the epidemiology and clinical features has been poorly understood. To explore the epidemiology of this entity, we performed a retrospective nationwide epidemiological survey in Japan using questionnaire sheets. The questionnaire was sent to 561 institutions or hospitals certified by Japanese Society of Hematology, unearthing the existence of 41 pedigrees of fMDS/AML. Among them, we obtained the clinical information of 31 patients in 20 pedigrees. The median age of the initial diagnosis was 51 years (range 9-88 years) and the WHO classification 2008 ranged from refractory anemia (RA) to AML. Focusing on the familial MDS patients, refractory anemia with excess blasts (RAEB)-2 was the largest group (27.3%). The median overall survival (OS) of fMDS and fAML in this study were 71.6 and 12.4 months, and the five-year OS were 61.3 and 50%, respectively.
虽然已经报道了几种家族性骨髓增生异常综合征/急性髓系白血病（fMDS/AML）的家系，但对其流行病学和临床特征仍了解甚少。为了探讨该实体的流行病学，我们使用问卷表在日本进行了一项回顾性全国性流行病学调查。问卷发送给了日本血液学会认证的 561 家机构或医院，发现了 41 个 fMDS/AML 的家系。其中，我们获得了 20 个家系中 31 名患者的临床信息。初始诊断的中位年龄为 51 岁（范围为 9-88 岁），2008 年 WHO 分类范围从难治性贫血（RA）到 AML。关注家族性 MDS 患者，伴原始细胞过多的难治性贫血（RAEB）-2 是最大的组（27.3%）。本研究中 fMDS 和 fAML 的中位总生存期（OS）分别为 71.6 和 12.4 个月，5 年 OS 分别为 61.3%和 50%。
